Canonical Allele Identifier: CA397722902

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221018T>G , CM000679.2:g.7221018T>G	GRCh38
NC_000017.10:g.7124337T>G , CM000679.1:g.7124337T>G	GRCh37
NC_000017.9:g.7065061T>G	NCBI36
NG_007975.1:g.6185T>G
NG_008391.2:g.4033A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.437T>G MANE Select	NP_000009.1:p.Val146Gly
ENST00000356839.10:c.437T>G MANE Select	ENSP00000349297.5:p.Val146Gly
NM_000018.3:c.437T>G	NP_000009.1:p.Val146Gly
NM_001033859.2:c.371T>G	NP_001029031.1:p.Val124Gly
NM_001033859.3:c.371T>G	NP_001029031.1:p.Val124Gly
NM_001270447.1:c.506T>G	NP_001257376.1:p.Val169Gly
NM_001270447.2:c.506T>G	NP_001257376.1:p.Val169Gly
NM_001270448.1:c.209T>G	NP_001257377.1:p.Val70Gly
NM_001270448.2:c.209T>G	NP_001257377.1:p.Val70Gly
ENST00000322910.9:c.*392T>G	ENSP00000325395.5:n.*392T>G
ENST00000350303.9:c.371T>G	ENSP00000344152.5:p.Val124Gly
ENST00000356839.9:c.437T>G	ENSP00000349297.5:p.Val146Gly
ENST00000543245.6:c.506T>G	ENSP00000438689.2:p.Val169Gly
ENST00000577191.5:n.514T>G
ENST00000577433.5:n.645T>G
ENST00000577857.5:n.293+188T>G
ENST00000579286.5:n.618T>G
ENST00000579886.2:c.275T>G	ENSP00000463246.1:p.Val92Gly
ENST00000580365.1:n.168T>G
ENST00000581378.5:c.136T>G
ENST00000581562.5:n.484T>G
ENST00000582056.5:n.620T>G
ENST00000582166.1:n.418T>G
ENST00000583312.5:c.437T>G	ENSP00000467920.1:p.Val146Gly
ENST00000584103.5:c.470T>G	ENSP00000465353.1:p.Val157Gly
XM_006721516.2:c.437T>G	XP_006721579.2:p.Val146Gly
XM_006721516.3:c.437T>G	XP_006721579.2:p.Val146Gly
XM_011523829.1:c.437T>G	XP_011522131.1:p.Val146Gly
XM_011523829.2:c.437T>G	XP_011522131.1:p.Val146Gly
XM_011523830.1:c.437T>G	XP_011522132.1:p.Val146Gly
XM_011523830.2:c.437T>G	XP_011522132.1:p.Val146Gly
XM_024450741.1:c.437T>G	XP_024306509.1:p.Val146Gly
XR_934021.1:n.544T>G
XR_934021.2:n.496T>G
XR_934022.1:n.544T>G
XR_934022.2:n.496T>G
XR_934023.1:n.544T>G
XR_934023.2:n.496T>G